PRR14L p.Leu1395Leu

Variant names:

• chr22-31713653-C-C
• NM_173566.3:c.

Your query was ambiguous. Multiple possible variants found:

• chr22-31713654--
• chr22-31713654-C-T
• chr22-31713656-A-G
• chr22-31713654-CAA-AAG
• chr22-31713654-CAA-GAG
• chr22-31713654-CAA-TAG

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_173566.3(PRR14L):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: PRR14L NM_173566.3 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.215
• Publications: 0 publications found

Genes affected

PRR14L (HGNC:28738): (proline rich 14 like)

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_173566.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PRR14L	NM_173566.3	MANE Select	c.		exon_region	Exon 4 of 9	NP_775837.2	Q5THK1-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PRR14L	ENST00000327423.11	TSL:5 MANE Select	c.		exon_region	Exon 4 of 9	ENSP00000331845.6	Q5THK1-1
	PRR14L	ENST00000923610.1		c.		exon_region	Exon 4 of 9	ENSP00000593669.1
	PRR14L	ENST00000923611.1		c.		exon_region	Exon 4 of 9	ENSP00000593670.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 34

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.21

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr22-32109639;